/inherited susceptibility to mycobacterial diseases

/Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

Rare Disease

MONDO:0013957

Also Known As

IRF8 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiencyMSMD due to partial IRF8 deficiencyMSMD due to partial interferon regulatory factor 8 deficiencyMendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiencyautosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IRF8immunodeficiency type 32ACD11c-positive/CD1c-positive Dendritic cell deficiency, autosomal dominantIMD32AIRF8 deficiency, autosomal dominantimmunodeficiency 32Aimmunodeficiency 32A, Mycobacteriosis, autosomal dominant

Definition

A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG).

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Associated Genes

IRF8 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:614893 ↗

Orphanet

Orphanet:319600 ↗

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